Skeletal dysplasia
Gene: PCYT1A

PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)
EnsemblGeneIds (GRCh38): ENSG00000161217
EnsemblGeneIds (GRCh37): ENSG00000161217
OMIM: 123695, Gene2Phenotype
PCYT1A is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. At least 3 unrelated, molecularly confirmed, families. Green for this association.

In addition, two individuals reported with bi-allelic LoF variants, and lipodystrophy, fatty liver, severe insulin resistance, and diabetes. Amber for this association.
Created: 27 Apr 2021, 8:59 a.m. | Last Modified: 27 Apr 2021, 8:59 a.m.

Panel Version: 0.7375

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Congenital lipodystrophy

Publications

Created: 27 Apr 2021, 8:59 a.m.
Last Modified: 27 Apr 2021, 8:59 a.m.
Panel version: Imported from Mendeliome panel version 0.7375

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Spondylometaphyseal dysplasia with cone-rod dystrophy 608940
Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

OMIM

123695

Clinvar variants

Variants in PCYT1A

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PCYT1A was added gene: PCYT1A was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940; Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

Skeletal dysplasia Gene: PCYT1A